MCID: PSD012
MIFTS: 53

Pseudoachondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 48Novoseek, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 50 11 22 46 23 24 13 52 68 12 66
Pseudoachondroplastic Dysplasia 11 46 23 24 52 68
Psach 22 46 23 24 68 48
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 46 24
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 11 46
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 46 52
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 68 25

Characteristics:

Orphanet epidemiological data:

52
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
pseudoachondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 177170
Disease Ontology11 DOID:0080047
Orphanet52 ORPHA750
ICD10 via Orphanet29 Q77.8
MESH via Orphanet38 C535819
UMLS via Orphanet67 C0410538
MedGen35 C0410538
MeSH37 D010009

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:46 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and multiple epiphyseal dysplasia, and has symptoms including abnormality of the metaphyses, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and NCAM1 interactions. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutations in the comp gene which results in short limb dwarfism.

Genetics Home Reference:24 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:50 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

UniProtKB/Swiss-Prot:68 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia:69 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews summary for NBK1487

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplastic dysplasia 211.0
2multiple epiphyseal dysplasia10.5
3hemolytic anemia due to glutathione synthetase deficiency10.4COL2A1, COMP
4brachial plexus birth injuries10.4COL9A2, COL9A3
5vater/vacterl association10.4COL2A1, COL9A3
6scid, autosomal recessive, t-negative/b-positive type10.4COMP, SCN8A
7wallerian degeneration10.3COL2A1, COL9A2
8atrioventricular septal defect10.3COL9A2, COMP, SLC26A2
9osteopathia striata with pigmentary dermopathy including white forelock10.2COL2A1, COMP, MATN3
10myopathy with extrapyramidal signs10.2COL2A1, SLC26A2
11neuropathy, distal hereditary motor, type iia10.2COL2A1, COMP, SLC26A2
12laryngomalacia10.2COL2A1, COL9A1
13cerebral hemorrhage10.2ACAN, COMP
14epiphyseal dysplasia, multiple, 410.2DCN, SLC26A2
15atelosteogenesis ii10.2COL2A1, COMP, SLC26A2
16alopecia areata10.2COL9A1, DCN
17vulvovaginal candidiasis10.2COL2A1, COMP, SLC26A2
18asphyxiating thoracic dystrophy10.2
19skeletal dysplasias10.2
20skeletal dysplasia10.2
21stickler syndrome10.2COL2A1, COL9A2, SLC26A2
22sweat gland cancer10.1ACAN, COMP
23isolated congenital nasal pyriform aperture stenosis10.1COL9A1, COL9A2, COL9A3
24fibrochondrogenesis10.1COMP, DCN, SLC26A2
25isotretinoin syndrome10.1COL9A1, COL9A2, COL9A3
26achondroplasia10.1
27achondrogenesis, type ii or hypochondrogenesis10.1COL2A1, COMP
28osteopetrosis10.0ACAN, COL2A1
29diastrophic dysplasia10.0
30cervicitis10.0
31dwarfism10.0
32malignant giant cell tumor9.9ACAN, COMP
33pauciarticular onset juvenile idiopathic arthritis9.9ACAN, DCN
34smed strudwick type9.9ACAN, COL2A1, COMP
35acromesomelic dysplasia9.9ACAN, COL2A1, COMP
36leber congenital amaurosis 39.9ACAN, COL2A1, SLC26A2
37slc40a1-related hereditary hemochromatosis9.9ACAN, COL2A1
38bone structure disease9.9ACAN, COL9A2, COL9A3
39xanthomatosis9.9ACAN, COL2A1, COMP
40spondyloepimetaphyseal dysplasia9.9ACAN, COL2A1, MATN3
41intervertebral disc disease9.8COL9A2, COL9A3
42asthma9.8
43tendinopathy9.8
44osteogenesis imperfecta9.8
45cerebritis9.8
46myopathy9.8
47bone resorption disease9.8ACAN, COL2A1
48albright's hereditary osteodystrophy9.7COL2A1, COL9A1, COL9A2, COL9A3
49ischemic bone disease9.6COL2A1, COL9A2, COMP, MATN3, SLC26A2
50myasthenia, limb-girdle, with tubular aggregates9.5COL9A1, COL9A2, COL9A3, COMP, MATN3

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

 52 (show all 25)
  • platyspondyly
  • abnormality of the metaphyses
  • gait disturbance
  • degenerative joint disease
  • short foot
  • scoliosis
  • delayed skeletal maturation
  • osteoarthritis
  • kyphosis
  • arthralgia
  • genu valgum
  • genu varum
  • micromelia
  • abnormality of the hip bone
  • hyperlordosis
  • hypoplasia of the odontoid process
  • irregular carpal bones
  • short palm
  • hamartomatous polyposis
  • joint hyperflexibility
  • abnormality of epiphysis morphology
  • bowing of the long bones
  • disproportionate short-limb short stature
  • short metacarpal
  • intestinal polyposis

HPO human phenotypes related to Pseudoachondroplasia:

(show all 58)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 delayed skeletal maturation hallmark (90%) HP:0002750
5 micromelia hallmark (90%) HP:0002983
6 abnormality of the hip bone hallmark (90%) HP:0003272
7 platyspondyly typical (50%) HP:0000926
8 gait disturbance typical (50%) HP:0001288
9 limitation of joint mobility typical (50%) HP:0001376
10 joint hypermobility typical (50%) HP:0001382
11 short toe typical (50%) HP:0001831
12 scoliosis typical (50%) HP:0002650
13 osteoarthritis typical (50%) HP:0002758
14 arthralgia typical (50%) HP:0002829
15 hyperlordosis typical (50%) HP:0003307
16 kyphosis occasional (7.5%) HP:0002808
17 genu valgum occasional (7.5%) HP:0002857
18 genu varum occasional (7.5%) HP:0002970
19 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
20 sensory neuropathy HP:0000763
21 platyspondyly HP:0000926
22 brachydactyly syndrome HP:0001156
23 limited elbow extension HP:0001377
24 degenerative joint disease HP:0001379
25 ligamentous laxity HP:0001380
26 joint laxity HP:0001388
27 carpal bone hypoplasia HP:0001498
28 cervical cord compression HP:0002341
29 waddling gait HP:0002515
30 scoliosis HP:0002650
31 delayed epiphyseal ossification HP:0002663
32 osteoarthritis HP:0002758
33 kyphosis HP:0002808
34 genu recurvatum HP:0002816
35 arthralgia HP:0002829
36 flared femoral metaphysis HP:0002834
37 genu valgum HP:0002857
38 lumbar hyperlordosis HP:0002938
39 genu varum HP:0002970
40 short long bone HP:0003026
41 ulnar deviation of the wrist HP:0003049
42 limited hip extension HP:0003093
43 hypoplasia of the odontoid process HP:0003311
44 atlantoaxial dislocation HP:0003414
45 radial metaphyseal irregularity HP:0004019
46 ulnar metaphyseal irregularity HP:0004042
47 irregular carpal bones HP:0004236
48 beaking of vertebral bodies HP:0004568
49 fragmented, irregular epiphyses HP:0005063
50 disproportionate short-limb short stature HP:0008873
51 ulnar deviation of the hand HP:0009487
52 short distal phalanx of finger HP:0009882
53 short metacarpal HP:0010049
54 small epiphyses of the phalanges of the hand HP:0010236
55 irregular epiphyses HP:0010582
56 childhood onset short-limb short stature HP:0011405
57 spatulate ribs HP:0012307
58 fragmented epiphyses HP:0100168

UMLS symptoms related to Pseudoachondroplasia:


joint laxity, ulnar deviation of the wrist, waddling gait

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome25
2 Pseudoachondroplasia23 COMP

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

34
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL2A1, COL9A1, COL9A2, SCN8A
2MP:00053717.8COL2A1, COL9A1, COL9A2, COMP, MATN3, SLC26A2
3MP:00053907.0COL2A1, COL9A1, COL9A2, COMP, DCN, MATN3

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. (27330822)
2016
2
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. (25859006)
2015
3
Pseudoachondroplasia/COMP - translating from the bench to the bedside. (24892720)
2014
4
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. (24558358)
2014
5
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
6
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. (23562786)
2013
7
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
8
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
9
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. (22426567)
2012
10
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
11
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
12
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
13
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
14
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. (20306977)
2010
15
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. (19808781)
2010
16
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. (19320037)
2009
17
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
18
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
19
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. (17200202)
2007
20
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
21
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
22
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
23
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
24
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. (15183431)
2004
25
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
26
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
27
Pseudoachondroplasia with cerebral and renal cysts. (12150213)
2002
28
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
29
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
30
A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. (10753957)
2000
31
Bilateral total hip replacement in pseudoachondroplasia. (11103496)
2000
32
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
33
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026)
1998
34
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. (9880218)
1998
35
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320)
1998
36
Mosaicism in pseudoachondroplasia. (9188668)
1997
37
The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. (9388247)
1997
38
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
39
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
40
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
41
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
42
Pseudoachondroplasia (20301660)
1993
43
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
44
Pseudoachondroplasia with immune deficiency. (3263611)
1988
45
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
46
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
47
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
48
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
49
The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia. (7389735)
1980
50
Pseudoachondroplasia, a report of 13 cases. (871597)
1977

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

68 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616rs137852653
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632rs137852651
9COMPp.Asp472TyrVAR_007634rs137852650
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641rs312262900
14COMPp.Thr585ArgVAR_007642rs312262900
15COMPp.Cys348ArgVAR_017102rs137852656
16COMPp.Gly719AspVAR_017103rs137852655
17COMPp.Pro234SerVAR_066790rs557483957
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825rs312262903
30COMPp.Gly719SerVAR_066828rs312262904

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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Pathways related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.6COL9A1, COL9A3
29.3COL9A1, COL9A2, COL9A3
38.8COL2A1, COL9A1, COL9A2, COL9A3
48.5ACAN, COL2A1, DCN
5
Show member pathways
8.5COL2A1, COL9A1, COL9A2, COL9A3, COMP
6
Show member pathways
8.5COL2A1, COL9A1, COL9A2, COL9A3, COMP
78.5COL2A1, COL9A1, COL9A2, COL9A3, COMP
8
Show member pathways
8.3COL2A1, COL9A1, COL9A2, COL9A3, P4HB
98.2ACAN, COL2A1, COMP, DCN
10
Show member pathways
8.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3
11
Show member pathways
8.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3
127.3ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
13
Show member pathways
6.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.9COL9A1, COL9A2, COL9A3
2endoplasmic reticulum lumenGO:00057888.3COL2A1, COL9A1, COL9A2, COL9A3, P4HB
3extracellular matrixGO:00310127.9ACAN, COL2A1, COMP, DCN, P4HB
4proteinaceous extracellular matrixGO:00055786.9ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP
5extracellular regionGO:00055766.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.8COL2A1, COL9A1
2collagen fibril organizationGO:00301999.2ACAN, COL2A1
3animal organ morphogenesisGO:00098879.1COL9A1, COMP, DCN
4skeletal system developmentGO:00015018.1ACAN, COL2A1, COL9A2, COMP, MATN3
5extracellular matrix organizationGO:00301986.7ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.2ACAN, COMP, MATN3
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.0COL2A1, COL9A1, COL9A2, COL9A3

Sources for Pseudoachondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet